FITM1 (fat storage inducing transmembrane protein 1) - Rat Genome Database
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Gene: FITM1 (fat storage inducing transmembrane protein 1) Homo sapiens
Analyze
Symbol: FITM1
Name: fat storage inducing transmembrane protein 1
RGD ID: 1603355
HGNC Page HGNC
Description: Predicted to have diacylglycerol binding activity and triglyceride binding activity. Predicted to be involved in lipid droplet formation and positive regulation of sequestering of triglyceride. Predicted to localize to endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: fat storage-inducing transmembrane protein 1; fat-inducing protein 1; fat-inducing transcript 1; FIT1; MGC46490; similar to cg10671-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1424,130,659 - 24,132,849 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1424,131,275 - 24,132,849 (+)EnsemblGRCh38hg38GRCh38
GRCh381424,130,659 - 24,132,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371424,599,868 - 24,602,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,670,608 - 23,671,898 (+)NCBINCBI36hg18NCBI36
Celera144,465,145 - 4,466,528 (+)NCBI
Cytogenetic Map14q12NCBI
HuRef144,715,896 - 4,717,279 (+)NCBIHuRef
CHM1_11424,599,346 - 24,600,729 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:18160536   PMID:21832049   PMID:21873635  


Genomics

Comparative Map Data
FITM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1424,130,659 - 24,132,849 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1424,131,275 - 24,132,849 (+)EnsemblGRCh38hg38GRCh38
GRCh381424,130,659 - 24,132,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371424,599,868 - 24,602,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,670,608 - 23,671,898 (+)NCBINCBI36hg18NCBI36
Celera144,465,145 - 4,466,528 (+)NCBI
Cytogenetic Map14q12NCBI
HuRef144,715,896 - 4,717,279 (+)NCBIHuRef
CHM1_11424,599,346 - 24,600,729 (+)NCBICHM1_1
Fitm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391455,813,131 - 55,814,409 (+)NCBIGRCm39mm39
GRCm39 Ensembl1455,813,074 - 55,814,411 (+)Ensembl
GRCm381455,575,674 - 55,576,952 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1455,575,617 - 55,576,954 (+)EnsemblGRCm38mm10GRCm38
MGSCv371456,194,511 - 56,195,789 (+)NCBIGRCm37mm9NCBIm37
MGSCv361454,529,745 - 54,531,023 (+)NCBImm8
Celera1453,380,530 - 53,381,808 (+)NCBICelera
Cytogenetic Map14C3NCBI
Fitm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21529,064,746 - 29,066,015 (+)NCBI
Rnor_6.0 Ensembl1534,251,606 - 34,253,073 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01534,251,805 - 34,253,074 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01538,142,000 - 38,143,269 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41533,708,626 - 33,709,895 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11533,723,380 - 33,725,595 (+)NCBI
Celera1528,640,667 - 28,641,936 (+)NCBICelera
Cytogenetic Map15p13NCBI
Fitm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540936,267,121 - 36,268,462 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540936,267,121 - 36,268,462 (-)NCBIChiLan1.0ChiLan1.0
FITM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11423,031,818 - 23,033,459 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1423,031,818 - 23,033,459 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0144,906,504 - 4,909,119 (+)NCBIMhudiblu_PPA_v0panPan3
FITM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl84,127,488 - 4,128,794 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.184,127,148 - 4,128,779 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Fitm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936722410,294 - 411,680 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FITM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl775,161,833 - 75,168,245 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1775,166,986 - 75,168,240 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2780,438,281 - 80,439,536 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FITM1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1241,116,201 - 1,118,814 (+)NCBI
ChlSab1.1 Ensembl241,117,451 - 1,119,275 (+)Ensembl
Fitm1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248208,402,347 - 8,407,399 (-)NCBI

Position Markers
RH102373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,601,809 - 24,601,974UniSTSGRCh37
Build 361423,671,649 - 23,671,814RGDNCBI36
Celera144,466,279 - 4,466,444RGD
Cytogenetic Map14q12UniSTS
HuRef144,717,030 - 4,717,195UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:598
Count of miRNA genes:256
Interacting mature miRNAs:265
Transcripts:ENST00000267426, ENST00000559294
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 4 874 173 140 162 122 811 1219 4 15 11 20 1 810
Low 2201 1756 1518 459 1495 318 3032 897 2881 311 1319 1402 148 1 1170 1757 1
Below cutoff 218 360 31 22 228 23 469 78 821 106 103 184 5 33 220 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000267426   ⟹   ENSP00000267426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,131,275 - 24,132,849 (+)Ensembl
RefSeq Acc Id: ENST00000559294   ⟹   ENSP00000453741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,132,050 - 24,132,849 (+)Ensembl
RefSeq Acc Id: NM_203402   ⟹   NP_981947
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,130,659 - 24,132,847 (+)NCBI
GRCh371424,600,675 - 24,602,058 (+)RGD
Build 361423,670,608 - 23,671,898 (+)NCBI Archive
Celera144,465,145 - 4,466,528 (+)RGD
HuRef144,715,896 - 4,717,279 (+)RGD
CHM1_11424,599,346 - 24,600,729 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_981947 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A5D6W6 (Get FASTA)   NCBI Sequence Viewer  
  AAI39912 (Get FASTA)   NCBI Sequence Viewer  
  EAW66107 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_981947   ⟸   NM_203402
- UniProtKB: A5D6W6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000267426   ⟸   ENST00000267426
RefSeq Acc Id: ENSP00000453741   ⟸   ENST00000559294

Promoters
RGD ID:7227219
Promoter ID:EPDNEW_H19355
Type:initiation region
Name:FITM1_2
Description:fat storage inducing transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19356  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,131,229 - 24,131,289EPDNEW
RGD ID:7227225
Promoter ID:EPDNEW_H19356
Type:initiation region
Name:FITM1_1
Description:fat storage inducing transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19355  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,131,620 - 24,131,680EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NM_006263.3(PSME1):c.162G>A (p.Leu54=) single nucleotide variant Malignant melanoma [RCV000070508] Chr14:24137347 [GRCh38]
Chr14:24606556 [GRCh37]
Chr14:23676396 [NCBI36]
Chr14:14q12
not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12
likely pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 copy number loss See cases [RCV000142873] Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1
pathogenic
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 copy number loss See cases [RCV000510673] Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_203402.2(FITM1):c.312G>A (p.Gly104=) single nucleotide variant not provided [RCV000962320] Chr14:24132256 [GRCh38]
Chr14:24601465 [GRCh37]
Chr14:14q12
benign
NM_203402.2(FITM1):c.400G>A (p.Val134Met) single nucleotide variant not provided [RCV000881752] Chr14:24132344 [GRCh38]
Chr14:24601553 [GRCh37]
Chr14:14q12
benign
GRCh37/hg19 14q11.2-12(chr14:24505708-24601038)x1 copy number loss not provided [RCV000995269] Chr14:24505708..24601038 [GRCh37]
Chr14:14q11.2-12
uncertain significance
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1
not provided
NM_203402.2(FITM1):c.612C>A (p.Phe204Leu) single nucleotide variant not provided [RCV000934292] Chr14:24132556 [GRCh38]
Chr14:24601765 [GRCh37]
Chr14:14q12
likely benign
NM_203402.2(FITM1):c.759C>T (p.Ala253=) single nucleotide variant not provided [RCV000957199] Chr14:24132703 [GRCh38]
Chr14:24601912 [GRCh37]
Chr14:14q12
benign
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2
pathogenic
GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3 copy number gain not provided [RCV001259179] Chr14:24163771..24818728 [GRCh37]
Chr14:14q11.2-12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33714 AgrOrtholog
COSMIC FITM1 COSMIC
Ensembl Genes ENSG00000139914 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285321 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000267426 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453741 UniProtKB/Swiss-Prot
  ENSP00000493481 UniProtKB/Swiss-Prot
  ENSP00000493961 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000267426 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559294 UniProtKB/Swiss-Prot
  ENST00000642380 UniProtKB/Swiss-Prot
  ENST00000644407 UniProtKB/Swiss-Prot
GTEx ENSG00000139914 GTEx
  ENSG00000285321 GTEx
HGNC ID HGNC:33714 ENTREZGENE
Human Proteome Map FITM1 Human Proteome Map
InterPro FIT UniProtKB/Swiss-Prot
KEGG Report hsa:161247 UniProtKB/Swiss-Prot
NCBI Gene 161247 ENTREZGENE
OMIM 612028 OMIM
PANTHER PTHR23129 UniProtKB/Swiss-Prot
PharmGKB PA165478932 PharmGKB
UniProt A5D6W6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8IUQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 FITM1  fat storage inducing transmembrane protein 1    fat storage-inducing transmembrane protein 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 FITM1  fat storage-inducing transmembrane protein 1  FITM1  fat storage-inducing transmembrane protein 1  Symbol and/or name change 5135510 APPROVED